Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1328 | 4207;4208;4209 | chr2:178779100;178779099;178779098 | chr2:179643827;179643826;179643825 |
| N2AB | 1328 | 4207;4208;4209 | chr2:178779100;178779099;178779098 | chr2:179643827;179643826;179643825 |
| N2A | 1328 | 4207;4208;4209 | chr2:178779100;178779099;178779098 | chr2:179643827;179643826;179643825 |
| N2B | 1282 | 4069;4070;4071 | chr2:178779100;178779099;178779098 | chr2:179643827;179643826;179643825 |
| Novex-1 | 1282 | 4069;4070;4071 | chr2:178779100;178779099;178779098 | chr2:179643827;179643826;179643825 |
| Novex-2 | 1282 | 4069;4070;4071 | chr2:178779100;178779099;178779098 | chr2:179643827;179643826;179643825 |
| Novex-3 | 1328 | 4207;4208;4209 | chr2:178779100;178779099;178779098 | chr2:179643827;179643826;179643825 |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.658 | 0.568 | 0.318252033908 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99357E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9313 | likely_pathogenic | 0.9314 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.588 | neutral | D | 0.581124086 | None | None | I |
| G/C | 0.9729 | likely_pathogenic | 0.9727 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.742728644 | None | None | I |
| G/D | 0.9886 | likely_pathogenic | 0.9869 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.493734889 | None | None | I |
| G/E | 0.9873 | likely_pathogenic | 0.9852 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| G/F | 0.9963 | likely_pathogenic | 0.9964 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/H | 0.9938 | likely_pathogenic | 0.9939 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| G/I | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/K | 0.9919 | likely_pathogenic | 0.9913 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| G/L | 0.9921 | likely_pathogenic | 0.9919 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/M | 0.9937 | likely_pathogenic | 0.9939 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| G/N | 0.9787 | likely_pathogenic | 0.9782 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| G/Q | 0.9822 | likely_pathogenic | 0.9812 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| G/R | 0.9796 | likely_pathogenic | 0.9775 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.615588008 | None | None | I |
| G/S | 0.8535 | likely_pathogenic | 0.85 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.567599895 | None | None | I |
| G/T | 0.9816 | likely_pathogenic | 0.9807 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| G/V | 0.9945 | likely_pathogenic | 0.9938 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.707562072 | None | None | I |
| G/W | 0.9922 | likely_pathogenic | 0.991 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | I |
| G/Y | 0.9947 | likely_pathogenic | 0.9948 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.